Varaico: Literature-Extracted Genetic Variants

Gene:B3GNT4
Variant:p.L334delFs

B3GNT4

40 papers

RefSeq Summary

This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase protein family. The encoded enzyme is involved in the biosynthesis of poly-N-acetyllactosamine chains and prefers lacto-N-neo...

Pfam Domains

Galactosyl_Taa 132–323UCSCGalactosyltransferase

Gene Aliases

HGNC Name

UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4

HGNC Alias Symbols

B3GN-T4; beta3Gn-T4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_030765.4
p.L334delFs
c.1001delT
Surrounding Variants
1 paper
NM_030765.4
p.L334fs
c.1000_1001fs
1 paper
NM_030765.4
p.I330N
c.989T>A
1 paper
NM_030765.4
p.G324C
c.970G>T
1 paper
NM_030765.4
p.R313S
c.939G>C
1 paper
NM_030765.4
p.R313S
c.939G>T
1 paper
NM_030765.4
p.E355*
c.1063G>T
1 paper
NM_030765.4
p.W357G
c.1069T>G
1 paper
NM_030765.4
p.M359I
c.1077G>A
1 paper
NM_030765.4
p.M359I
c.1077G>C
1 paper
NM_030765.4
p.W360_C370insFs
c.1078_1108dup31
1 paper
NM_030765.4
p.M359I
c.1077G>T
1 paper
NM_030765.4
p.A361_A372insFs
c.1083_1114dup32
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